|
|
|
|
| | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
---|
Default View:
| |
---|
Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_015697 | Disease | p.ALA88VAL | Ectodermal dysplasia 2, Clouston type (ECTD2) | Swiss-Prot | VAR_048825 | Polymorphism | p.ASN159SER | N/A | Swiss-Prot | VAR_015696 | Disease | p.GLY11ARG | Ectodermal dysplasia 2, Clouston type (ECTD2) | Swiss-Prot | VAR_057960 | Polymorphism | p.GLY59ARG | N/A | Swiss-Prot | VAR_022424 | Polymorphism | p.SER139GLY | N/A | Swiss-Prot | VAR_022425 | Polymorphism | p.SER199THR | N/A | Swiss-Prot | VAR_008711 | Disease | p.THR5MET | Deafness, autosomal dominant, 3B (DFNA3B) | Swiss-Prot | VAR_016838 | Disease | p.VAL37GLU | Ectodermal dysplasia 2, Clouston type (ECTD2) | OMIM | 604418.0003 | Disease | p.ALA88VAL | ECTODERMAL DYSPLASIA, HIDROTIC | OMIM | 604418.0002 | Disease | p.GLY11ARG | ECTODERMAL DYSPLASIA, HIDROTIC | OMIM | 604418.0001 | Disease | p.THR5MET | DEAFNESS, AUTOSOMAL DOMINANT 3B | OMIM | 604418.0005 | Disease | p.VAL37GLU | ECTODERMAL DYSPLASIA, HIDROTIC |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|